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Childhood hearing loss

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https://www.readbyqxmd.com/read/29330315/outcome-of-preterm-infants-with-postnatal-cytomegalovirus-infection
#1
Julia Gunkel, Linda S de Vries, Marian Jongmans, Corine Koopman-Esseboom, Ingrid C van Haastert, Maria C J Eijsermans, Carolien van Stam, Bert G A van Zanten, Tom F W Wolfs, Joppe Nijman
OBJECTIVES: To assess whether preterm infants with postnatal cytomegalovirus infection develop neurologic sequelae in early childhood. METHODS: Infants <32 weeks' gestation were prospectively screened for cytomegalovirus (CMV) at term-equivalent age. Neurodevelopment was compared between CMV-positive and CMV-negative infants by using the Griffiths Mental Development Scales (GMDS) at 16 months' corrected age (CA); the Bayley Scales of Infant and Toddler Development, Third Edition or the GMDS at 24 to 30 months' CA; and the Wechsler Preschool and Primary Scale of Intelligence, Third Edition and Movement Assessment Battery for Children, Second Edition at 6 years of age...
January 12, 2018: Pediatrics
https://www.readbyqxmd.com/read/29326878/ten-year-long-enzyme-replacement-therapy-shows-a-poor-effect-in-alleviating-giant-leg-ulcers-in-a-male-with-fabry-disease
#2
Jun Okada, Mohammad Arif Hossain, Chen Wu, Takashi Miyajima, Hiroko Yanagisawa, Keiko Akiyama, Yoshikatsu Eto
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids. Classical hemizygous males usually present symptoms, including pain and paresthesia in the extremities, angiokeratoma, hypo- or anhidrosis, abdominal pain, cornea verticillata, early stroke, tinnitus, and/or hearing loss, during early childhood or adolescence. Moreover, proteinuria, renal impairment, and cardiac hypertrophy can appear with age...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29315086/six2-gene-haploinsufficiency-leads-to-a-recognizable-phenotype-with-ptosis-frontonasal-dysplasia-and-conductive-hearing-loss
#3
Alina Henn, Harald Weng, Simon Novak, Günther Rettenberger, Andreas Gerhardinger, Eva Rossier, Birgit Zirn
Heterozygous microdeletions of chromosome 2p21 encompassing only the SIX2 gene have been described in two families to date. The clinical phenotype comprised autosomal-dominant inherited frontonasal dysplasia with ptosis in one family. In the second family, conductive hearing loss was the major clinical feature described; however, the affected persons also had ptosis. Here, we present a large family combining all three predescribed features of SIX2 gene deletion. The phenotype in four affected family members in three generations consisted of bilateral congenital ptosis, epicanthus inversus, frontonasal dysplasia with broad nasal bridge and hypertelorism, frontal bossing and large anterior fontanel in childhood, narrow ear canals, and mild conductive hearing loss with onset in childhood...
January 8, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29287866/childhood-hearing-loss-is-a-key-feature-of-capos-syndrome-a-case-report
#4
Stéphanie Paquay, Elsa Wiame, Naima Deggouj, Antonella Boschi, Romolo Daniele De Siati, Yves Sznajer, Marie-Cécile Nassogne
CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29276601/delayed-diagnosis-of-a-patient-with-usher-syndrome-1c-in-a-louisiana-acadian-family-highlights-the-necessity-of-timely-genetic-testing-for-the-diagnosis-and-management-of-congenital-hearing-loss
#5
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona Bakeer, Michael Marble, Chindo Hicks, Fern Tsien
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29230928/audiological-monitoring-in-swiss-childhood-cancer-patients
#6
Annette Weiss, Rahel Kuonen, Hanna Brockmeier, Michael Grotzer, Claudia Candreia, Raphael Maire, Pascal Senn, Christof Stieger, Jochen Rosenfeld, Dorothe Veraguth, Martin Kompis, Katrin Scheinemann, Claudia E Kuehni
BACKGROUND: Full audiological monitoring is the best strategy to detect hearing loss early and to provide timely intervention in the absence of a clinical method of otoprotection. Full monitoring requires audiological evaluation before, and then during and after ototoxic cancer treatment. In a worldwide context of monitoring protocols that vary substantially, we analyzed the audiological monitoring of childhood cancer patients over the last decade across treatment centers in Switzerland...
December 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29224773/parental-knowledge-and-attitudes-to-childhood-hearing-loss-and-hearing-services-in-the-solomon-islands
#7
Annette Kaspar, Obiga Newton, Joseph Kei, Carlie Driscoll, De Wet Swanepoel, Helen Goulios
OBJECTIVE: An understanding of parental knowledge and attitudes towards childhood hearing loss is essential to the successful implementation of audiology services. The present study aimed to investigate parental knowledge and attitudes among parents in the Solomon Islands. METHODS AND MATERIALS: A total of 100 mothers and 50 fathers were administered a questionnaire via semi-structured interviews. RESULTS: Highest parental awareness of aetiology of childhood hearing loss was noted for otitis media (94%), noise exposure (87...
December 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29205326/clinical-features-familial-history-and-migraine-precursors-in-patients-with-definite-vestibular-migraine-the-vm-phenotypes-projects
#8
Roberto Teggi, Bruno Colombo, Roberto Albera, Giacinto Asprella Libonati, Cristiano Balzanelli, Angel Batuecas Caletrio, Augusto Casani, Juan Manuel Espinoza-Sanchez, Paolo Gamba, Jose A Lopez-Escamez, Sergio Lucisano, Marco Mandalà, Giampiero Neri, Daniele Nuti, Rudy Pecci, Antonio Russo, Eduardo Martin-Sanz, Ricardo Sanz, Gioacchino Tedeschi, Paola Torelli, Paolo Vannucchi, Giancarlo Comi, Mario Bussi
OBJECTIVE: The aim of this work was to assess through a questionnaire the features of vertiginous episodes, accompanying symptoms, familial history, and migraine precursors in a sample of 252 subjects with a diagnosis of definite vestibular migraine. BACKGROUND: Migraine is a common neurological disorder characterized by episodic headaches with specific features. About two-thirds of cases run in families, and patients may refer symptoms occurring in infancy and childhood, defined as episodic syndromes that may be associated with migraine...
December 4, 2017: Headache
https://www.readbyqxmd.com/read/29205100/role-of-cortical-auditory-evoked-potentials-in-reducing-the-age-at-hearing-aid-fitting-in-children-with-hearing-loss-identified-by-newborn-hearing-screening
#9
Kinjal Mehta, Peter Watkin, Margaret Baldwin, Josephine Marriage, Merle Mahon, Deborah Vickers
Recording of free-field cortical auditory evoked potential (CAEP) responses to speech tokens was introduced into the audiology management for infants with a permanent childhood hearing impairment (PCHI) during 2011-2015 at a U.K. service. Children with bilateral PCHI were studied from two sequential cohorts. Thirty-four children had followed an audiology pathway prior to CAEP introduction, and 44 children followed a pathway after the introduction of CAEP and were tested with unaided and aided CAEP responses...
January 2017: Trends in Hearing
https://www.readbyqxmd.com/read/29188363/meta-analysis-of-adjunctive-dexamethasone-to-improve-clinical-outcome-of-bacterial-meningitis-in-children
#10
REVIEW
Ying Wang, Xinjie Liu, Yuzhen Wang, Qi Liu, Cuicui Xu, Guixia Xu
BACKGROUND: The current recommended therapies for bacterial meningitis are effective antimicrobial agents and the implementation of childhood vaccination programs. However, the role of adjunctive dexamethasone therapy in bacterial meningitis remains controversial. METHODS: Using meta-analysis, this study aims to investigate the efficacy of adjunctive dexamethasone therapy in bacterial meningitis by comparing it with antibiotic therapy. Documents of randomized controlled trials (RCT) related to the treatment of bacterial meningitis in children with dexamethasone published since the establishment of the databases to December in 2016 were retrieved from the databases of Cochrane Library, Pubmed, MEDLINE, EMBASE, Chinese BioMedical Literature Database, and China National Knowledge Infrastructure...
November 29, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29158884/a-mitochondrial-disorder-in-a-middle-age-iranian-patient-report-of-a-rare-case
#11
Mostafa Almasi, Mohammad Reza Motamed, Masoud Mehrpour, Bahram Haghi-Ashtiani, Fahimeh Haji Akhondi, Yalda Nilipour, Seyed-Mohammad Fereshtehnejad
Introduction: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can involve multiple systems and cause stroke-like episodes and status epilepticus. Case Presentation: A 48-year-old female with history of early fatigability, migraine-type headaches, and bilateral sensory-neural hearing loss presented 3 episodes of serial seizures. On admission she was affected by Wernicke aphasia and, then, right hemiparesis. Investigations showed elevated arterial lactate and ragged red fibers on muscle biopsy...
July 2017: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/29158869/otitis-media-with-effusion-and-atopy-is-there-a-causal-relationship
#12
REVIEW
Mario E Zernotti, Ruby Pawankar, Ignacio Ansotegui, Hector Badellino, Juan Sebastian Croce, Elham Hossny, Motohiro Ebisawa, Nelson Rosario, Mario Sanchez Borges, Yuan Zhang, Luo Zhang
Otitis Media with Effusion (OME) is an inflammatory condition of the middle ear cleft, acute or chronic, with collection of fluid in the middle ear with an intact tympanic membrane. It is a very common disease in childhood, the most frequent cause of hearing loss in childhood and often requiring surgery. OME is called chronic when the fluid in the middle ear persists for more than three months or when the episodes recur six or more times in one year. The current article covers various aspects of OME including definition, epidemiology...
2017: World Allergy Organization Journal
https://www.readbyqxmd.com/read/29130651/further-delineation-of-the-gdf6-related-multiple-synostoses-syndrome
#13
Paulien A Terhal, Nienke E Verbeek, Nine Knoers, Rutger J A J Nievelstein, Ans van den Ouweland, Ralph J Sakkers, Lucienne Speleman, Gijs van Haaften
A mutation in GDF6 was recently found to underlie a multiple synostoses syndrome. In this report, we describe the second family with GDF6-related multiple synostoses syndrome (SYNS4), caused by a novel c.1287C>A/p.Ser429Arg mutation in GDF6. In addition to synostoses of carpal and/or tarsal bones, at least 6 of 10 affected patients in this family have been diagnosed with mild to moderate hearing loss. In four of them otosclerosis was said to be present, one patient had hearing loss due to severe stapes fixation at the age of 6 years, providing evidence that hearing loss in the GDF6-related multiple synostoses syndrome can be present in childhood...
January 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29117949/trends-in-hearing-loss-among-adolescents
#14
Tyson S Barrett, Karl R White
OBJECTIVES: Our aim with this article is to evaluate whether the prevalence of hearing loss is increasing among adolescents living in the United States. METHODS: All available data about hearing loss among adolescents from the large, federally funded National Health and Nutrition Examination Survey (NHANES) were analyzed. By using the 4 data releases between 1994 and 2010 (a total of 6891 adolescents), the prevalence of adolescent hearing loss >15 and ≥25 dB at low frequencies (0...
November 8, 2017: Pediatrics
https://www.readbyqxmd.com/read/29114160/clinical-characteristics-of-troublesome-pediatric-tinnitus
#15
Annett Szibor, Topi Jutila, Antti Mäkitie, Antti Aarnisalo
Objectives: The frequency of tinnitus in children and adults is practically the same. However, although adults reveal their symptoms and seek for medical aid, the suffering often remains unrecognized in the young. This is due to both the inability of children to properly describe their symptoms and the lack of recognition. Materials and methods: Among 5768 patients entering our department with complaints of tinnitus between 2010 and 2015, there were only 112 children...
2017: Clinical Medicine Insights. Ear, Nose and Throat
https://www.readbyqxmd.com/read/29105081/long-term-sequelae-in-survivors-of-childhood-leukemia-with-down-syndrome-a-childhood-cancer-survivor-study-report
#16
Robert E Goldsby, Kayla L Stratton, Shannon Raber, Arthur Ablin, Louise C Strong, Kevin Oeffinger, Charles A Sklar, Gregory T Armstrong, Leslie L Robison, Smita Bhatia, Wendy M Leisenring
BACKGROUND: Children with Down syndrome (DS) are at increased risk of developing acute leukemia and are more prone to acute toxicities. We studied the incidence and severity of chronic health conditions among survivors of childhood leukemia with DS compared with those without DS. METHODS: Chronic health conditions reported by questionnaire were compared between 154 pediatric leukemia survivors with DS and 581 without DS, matched by leukemia, age at diagnosis, race/ethnicity, sex, radiation location and chemotherapy exposure using Cox models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs)...
November 3, 2017: Cancer
https://www.readbyqxmd.com/read/29098097/early-renal-involvement-in-a-girl-with-classic-fabry-disease
#17
Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche
Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29090527/novel-pregnancy-triggered-episodes-of-capos-syndrome
#18
Irene J Chang, Margaret P Adam, Suman Jayadev, Thomas D Bird, Niranjana Natarajan, Ian A Glass
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder characterized by episodic, fever-induced ataxic encephalopathy in childhood with residual symptoms. All identified patients have the same heterozygous missense variant c.2452G>A (p.Glu818Lys) in the ATP1A3 gene, encoding Na(+) /K(+) ATPase α3. We describe a large CAPOS pedigree with three generations of affected members, the first ascertained in the United States...
November 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29080812/juvenile-paget-disease
#19
Stergios A Polyzos, Tim Cundy, Christos S Mantzoros
Juvenile Paget disease (JPD) is a rare disorder, mainly caused by mutations in the gene TNFRSF11B that encodes osteoprotegerin (OPG). Loss of OPG action causes generalized, extremely rapid bone turnover. The clinical manifestations are both skeletal - progressive skeletal deformity that develops in childhood - and extra-skeletal, including hearing loss, retinopathy, vascular calcification and internal carotid artery aneurysm formation. The severity of the phenotype seems to be related to the severity of TNFRSF11B gene deactivation...
October 25, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29066580/intelligence-and-academic-achievement-with-asymptomatic-congenital-cytomegalovirus-infection
#20
Adriana S Lopez, Tatiana M Lanzieri, Angelika H Claussen, Sherry S Vinson, Marie R Turcich, Isabella R Iovino, Robert G Voigt, A Chantal Caviness, Jerry A Miller, W Daniel Williamson, Craig M Hales, Stephanie R Bialek, Gail Demmler-Harrison
OBJECTIVES: To examine intelligence, language, and academic achievement through 18 years of age among children with congenital cytomegalovirus infection identified through hospital-based newborn screening who were asymptomatic at birth compared with uninfected infants. METHODS: We used growth curve modeling to analyze trends in IQ (full-scale, verbal, and nonverbal intelligence), receptive and expressive vocabulary, and academic achievement in math and reading. Separate models were fit for each outcome, modeling the change in overall scores with increasing age for patients with normal hearing (n = 78) or with sensorineural hearing loss (SNHL) diagnosed by 2 years of age (n = 11) and controls (n = 40)...
November 2017: Pediatrics
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